rs1494961

This is a variant in the HELQ gene that changes a valine to an isoleucine.

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GWAS Catalog Trait Associations (1)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

upper aerodigestive tract neoplasm

McKay JD et al. “A genome-wide association study of upper aerodigestive tract cancers conducted within the INHANCE consortium.” Plos Genetics 7(3):e1001333 (2011)

Allele C

OR 1.12

p 1.0e-8

N 10,425

Major Consortium StudyLarge GWAS

European

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ClinVar annotation

Benign

1 submitter

HELQ-related disorder

View on ClinVar →

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Research that mentions this SNP (1)

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Genetic variants at 4q21, 4q23 and 12q24 are associated with esophageal squamous cell carcinoma risk in a Chinese population

AssociationN=4,412Yong Gao et al.(2013)· Human Genetics

A case-control study of 2,139 esophageal squamous cell carcinoma (ESCC) cases and 2,273 controls in a Chinese population examined six SNPs previously associated with upper aerodigestive tract cancers in Europeans. Four SNPs showed significant association with ESCC risk: rs1494961 at 4q21 (OR=1.15, 95% CI=1.05-1.26), rs1229984 in ADH1B at 4q23 (OR=1.24, 95% CI=1.13-1.36), rs1789924 near ADH1C at 4q23 (OR=1.20, 95% CI=1.03-1.39), and rs671 in ALDH2 at 12q24 (OR=0.83, 95% CI=0.75-0.91). Combined analysis showed significant allele-dosage effects with individuals carrying 5+ risk alleles having 1.76-fold increased ESCC risk.

Traits studied:Esophageal squamous cell carcinomaUpper aerodigestive tract cancers

PubMed DOI Metascience Observatory

About HELQ

HEL308 is a single-stranded DNA-dependent ATPase and DNA helicase (Marini and Wood, 2002 [PubMed 11751861]).[supplied by OMIM, Mar 2008]